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DLEU7 deleted in lymphocytic leukemia 7 [ Homo sapiens (human) ]

Gene ID: 220107, updated on 17-Sep-2024

Summary

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Official Symbol
DLEU7provided by HGNC
Official Full Name
deleted in lymphocytic leukemia 7provided by HGNC
Primary source
HGNC:HGNC:17567
See related
Ensembl:ENSG00000186047 MIM:618634; AllianceGenome:HGNC:17567
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See DLEU7 in Genome Data Viewer
Location:
13q14.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (50711026..50843939, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (49925974..50058890, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (51285162..51418075, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene deleted in lymphocytic leukemia 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:51102968-51104167 Neighboring gene DLEU1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7762 Neighboring gene Sharpr-MPRA regulatory region 8262 Neighboring gene uncharacterized LOC107984568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51416758-51417684 Neighboring gene DLEU7 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 28 Neighboring gene RNASEH2B antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:51467712-51468251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7771 Neighboring gene ribonuclease H2 subunit B Neighboring gene ReSE screen-validated silencer GRCh37_chr13:51575479-51575649 Neighboring gene guanylate cyclase 1 soluble subunit beta 2 (pseudogene) Neighboring gene RNA, 5S ribosomal pseudogene 29

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
  2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association of anthropometric traits in African- and African-derived populations.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 20 loci that influence adult height.
EBI GWAS Catalog
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
EBI GWAS Catalog
Genome-wide association study of lung function decline in adults with and without asthma.
EBI GWAS Catalog
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ44882, MGC138214

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
leukemia-associated protein 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001306135.2 → NP_001293064.1  leukemia-associated protein 7 isoform 1

    See identical proteins and their annotated locations for NP_001293064.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL137880
    Consensus CDS
    CCDS76635.1
    UniProtKB/Swiss-Prot
    Q2M2E4, Q6UYE1, Q6ZT82
    Related
    ENSP00000427177.1, ENST00000504404.2
    Conserved Domains (1) summary
    pfam15760
    Location:28 → 221
    DLEU7; Leukemia-associated protein 7

  2. NM_198989.3 → NP_945340.2  leukemia-associated protein 7 isoform 2

    See identical proteins and their annotated locations for NP_945340.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate 3' exon and contains an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC007304, AK126830, AW290996, BM931512, DN992279
    Consensus CDS
    CCDS53869.1
    UniProtKB/TrEMBL
    A0A994J5B2
    Related
    ENSP00000420976.1, ENST00000400393.3
    Conserved Domains (1) summary
    pfam15760
    Location:28 → 153
    DLEU7; Leukemia-associated protein 7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    50711026..50843939 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    49925974..50058890 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UYE1.1 GenPept UniProtKB/Swiss-Prot:Q6UYE1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
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